Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.88416725C>TCA259907SPATA7c.253C>T (p.Arg85Ter)
c.157C>T (p.Arg53Ter)
n.381C>T
c.211C>T (p.Arg71Ter)
c.*128C>T (n.*128C>T)
c.*210C>T (n.*210C>T)
c.*269C>T (n.*269C>T)
c.82C>T (p.Arg28Ter)
c.*57C>T (n.*57C>T)
n.800C>T
c.234C>T (p.Asn78=)
c.61C>T (p.Arg21Ter)
c.100C>T (p.Arg34Ter)
c.-66C>T (n.-66C>T)
n.324C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88416725C>GCA7298476SPATA7c.253C>G (p.Arg85Gly)
c.157C>G (p.Arg53Gly)
n.381C>G
c.211C>G (p.Arg71Gly)
c.*128C>G (n.*128C>G)
c.*210C>G (n.*210C>G)
c.*269C>G (n.*269C>G)
c.82C>G (p.Arg28Gly)
c.*57C>G (n.*57C>G)
n.800C>G
c.234C>G (p.Asn78Lys)
c.61C>G (p.Arg21Gly)
c.100C>G (p.Arg34Gly)
c.-66C>G (n.-66C>G)
n.324C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched